Variant report

Variant	rs10132093
Chromosome Location	chr14:67847511-67847512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67846836..67848449-chr14:67854431..67855957,2	MCF-7	breast:
2	chr14:67844890..67848523-chr14:67850146..67853406,4	K562	blood:
3	chr14:67846584..67848955-chr14:67851906..67855058,3	K562	blood:
4	chr14:67846088..67848970-chr14:67855997..67860088,3	MCF-7	breast:
5	chr14:67825430..67827590-chr14:67846726..67850726,3	K562	blood:
6	chr14:67825491..67828010-chr14:67847426..67849597,2	MCF-7	breast:
7	chr14:67824960..67833553-chr14:67841295..67848479,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100558	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000134001	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1006595	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs10129185	0.92[ASN][1000 genomes]
rs10131175	0.81[CHB][hapmap]
rs10131212	0.82[JPT][hapmap]
rs10131984	0.90[EUR][1000 genomes]
rs10135903	0.80[CHB][hapmap]
rs10137557	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs10138755	0.83[CHB][hapmap]
rs10138824	0.82[JPT][hapmap]
rs10139953	0.92[ASN][1000 genomes]
rs10141180	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10141879	0.87[JPT][hapmap]
rs10144090	0.87[JPT][hapmap]
rs10144122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10144401	0.82[JPT][hapmap]
rs10144417	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs10144774	0.92[ASN][1000 genomes]
rs10146389	0.83[ASN][1000 genomes]
rs10146663	0.82[JPT][hapmap]
rs10147362	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10147852	0.82[JPT][hapmap]
rs10149615	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10150082	0.81[EUR][1000 genomes]
rs10150902	0.82[JPT][hapmap]
rs10431718	0.82[JPT][hapmap]
rs1044745	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1045060	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs1078194	0.88[JPT][hapmap]
rs11158653	0.84[EUR][1000 genomes]
rs11158655	0.82[JPT][hapmap]
rs12323494	0.82[JPT][hapmap]
rs12323911	0.82[JPT][hapmap]
rs12588292	0.89[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs12588458	0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12589671	0.81[CHB][hapmap]
rs12590065	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs12590956	0.88[JPT][hapmap]
rs13379368	0.81[CHB][hapmap]
rs1473732	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1535491	0.82[JPT][hapmap]
rs1536271	0.81[CHB][hapmap]
rs1555853	0.82[JPT][hapmap]
rs17104103	0.82[JPT][hapmap]
rs17104114	0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs17104202	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17248526	0.82[JPT][hapmap]
rs17248616	0.83[CHB][hapmap]
rs17248895	0.81[JPT][hapmap]
rs1885590	0.89[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2031564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2094162	0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2146229	0.82[JPT][hapmap]
rs2146230	0.82[JPT][hapmap]
rs2148160	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2274335	0.81[CHB][hapmap]
rs2274338	0.81[CHB][hapmap]
rs2281676	0.89[EUR][1000 genomes]
rs2296560	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs2296561	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296562	0.92[ASN][1000 genomes]
rs2296563	0.91[ASN][1000 genomes]
rs2319777	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28521373	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759755	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs3784085	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs3818467	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs3818468	0.82[JPT][hapmap]
rs3844530	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4143909	0.88[JPT][hapmap]
rs4636843	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57154550	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs58257525	0.91[ASN][1000 genomes]
rs60505324	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61612119	0.94[EUR][1000 genomes]
rs6573758	0.94[EUR][1000 genomes]
rs6573760	0.88[JPT][hapmap];0.95[YRI][hapmap];0.94[EUR][1000 genomes]
rs6573763	0.86[JPT][hapmap]
rs6573765	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573768	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573769	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6573770	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66851210	0.93[ASN][1000 genomes]
rs67968914	0.93[ASN][1000 genomes]
rs68002629	0.89[ASN][1000 genomes]
rs7141756	0.81[CHB][hapmap]
rs7151898	0.90[EUR][1000 genomes]
rs7153725	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7154607	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7156119	0.90[EUR][1000 genomes]
rs7156441	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs7157704	0.91[ASN][1000 genomes]
rs73279056	0.94[EUR][1000 genomes]
rs73280987	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73282707	0.87[ASN][1000 genomes]
rs73284892	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8003327	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8004148	0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs8004332	0.82[JPT][hapmap]
rs8004488	0.88[JPT][hapmap];0.86[YRI][hapmap];0.94[EUR][1000 genomes]
rs8005756	0.90[ASN][1000 genomes]
rs8005876	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8005981	0.85[EUR][1000 genomes]
rs8006042	0.90[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs8006391	0.81[CHB][hapmap]
rs8006519	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs8007033	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs8007618	0.82[JPT][hapmap]
rs8007696	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8007866	0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs8008443	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs8008619	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs8008724	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs8015641	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs8015819	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015950	0.81[JPT][hapmap]
rs8016024	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs8016037	0.82[JPT][hapmap]
rs8019109	0.85[ASN][1000 genomes]
rs8020262	0.81[JPT][hapmap]
rs8020850	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs8021730	0.81[JPT][hapmap]
rs8021896	0.82[JPT][hapmap]
rs8021992	0.81[ASN][1000 genomes]
rs9323497	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs960797	0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs9743912	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9743983	0.95[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10132093	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs10132093	EIF2S1	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67828400-67854000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:67828600-67854600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:67828800-67854000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:67829000-67855200	Strong transcription	Fetal Thymus	thymus
5	chr14:67829200-67852000	Strong transcription	Placenta	Placenta
6	chr14:67829200-67853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:67829200-67853600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:67829400-67853600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr14:67829400-67854000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:67829400-67854200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:67829400-67854200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:67829600-67854800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:67829800-67854000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:67829800-67854400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr14:67830000-67854000	Strong transcription	HSMM	muscle
16	chr14:67830200-67851800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:67830400-67854000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:67830400-67855000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:67830400-67855000	Strong transcription	Liver	Liver
20	chr14:67830800-67853000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:67831000-67854000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr14:67831000-67855200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr14:67831200-67854600	Strong transcription	Primary T cells from cord blood	blood
24	chr14:67831200-67864600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr14:67831400-67853000	Strong transcription	Adipose Nuclei	Adipose
26	chr14:67831400-67854200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:67831400-67854400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:67831400-67856200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr14:67831600-67852400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:67831600-67853200	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr14:67831800-67854600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:67834000-67854200	Strong transcription	Dnd41	blood
33	chr14:67835000-67854000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:67835000-67857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:67835200-67848600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:67835200-67855400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:67835200-67863400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:67836200-67853400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:67837200-67852800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr14:67837400-67855200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:67837600-67851400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:67837600-67853200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:67837600-67860800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:67837800-67851800	Strong transcription	HMEC	breast
45	chr14:67838000-67854200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr14:67838400-67852600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:67838400-67853000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:67838400-67853000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:67838400-67853600	Strong transcription	A549	lung
50	chr14:67838400-67853800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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